rs2240695
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018900.4(PCDHA1):c.2276G>A(p.Cys759Tyr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C759F) has been classified as Likely benign.
Frequency
Consequence
NM_018900.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PCDHA1 | NM_018900.4 | c.2276G>A | p.Cys759Tyr | missense_variant | 1/4 | ENST00000504120.4 | |
PCDHA1 | NM_031410.2 | c.2276G>A | p.Cys759Tyr | missense_variant | 1/1 | ||
PCDHA1 | NM_031411.3 | c.1602+674G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PCDHA1 | ENST00000504120.4 | c.2276G>A | p.Cys759Tyr | missense_variant | 1/4 | 1 | NM_018900.4 | P1 | |
ENST00000655235.1 | n.946C>T | non_coding_transcript_exon_variant | 2/2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 59
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at